Incidental Mutation 'R0196:Bag6'
ID |
60761 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bag6
|
Ensembl Gene |
ENSMUSG00000024392 |
Gene Name |
BCL2-associated athanogene 6 |
Synonyms |
2410045D21Rik, G3, D17H6S52E, Bat3, Scythe |
MMRRC Submission |
038455-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0196 (G1)
|
Quality Score |
83 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
35354154-35366298 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 35363239 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Alanine
at position 693
(G693A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129324
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025250]
[ENSMUST00000025253]
[ENSMUST00000166426]
[ENSMUST00000172571]
[ENSMUST00000173550]
[ENSMUST00000174281]
[ENSMUST00000173952]
[ENSMUST00000173535]
[ENSMUST00000173491]
[ENSMUST00000174805]
|
AlphaFold |
Q9Z1R2 |
Predicted Effect |
unknown
Transcript: ENSMUST00000025250
AA Change: G711A
|
SMART Domains |
Protein: ENSMUSP00000025250 Gene: ENSMUSG00000024392 AA Change: G711A
Domain | Start | End | E-Value | Type |
UBQ
|
17 |
87 |
5.62e-22 |
SMART |
low complexity region
|
96 |
112 |
N/A |
INTRINSIC |
low complexity region
|
189 |
206 |
N/A |
INTRINSIC |
low complexity region
|
220 |
239 |
N/A |
INTRINSIC |
low complexity region
|
246 |
264 |
N/A |
INTRINSIC |
Pfam:DUF3538
|
277 |
393 |
1.7e-44 |
PFAM |
low complexity region
|
427 |
438 |
N/A |
INTRINSIC |
low complexity region
|
557 |
625 |
N/A |
INTRINSIC |
low complexity region
|
632 |
648 |
N/A |
INTRINSIC |
low complexity region
|
673 |
721 |
N/A |
INTRINSIC |
low complexity region
|
725 |
747 |
N/A |
INTRINSIC |
low complexity region
|
765 |
780 |
N/A |
INTRINSIC |
low complexity region
|
798 |
808 |
N/A |
INTRINSIC |
low complexity region
|
1029 |
1042 |
N/A |
INTRINSIC |
low complexity region
|
1088 |
1098 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000025253
|
SMART Domains |
Protein: ENSMUSP00000025253 Gene: ENSMUSG00000024393
Domain | Start | End | E-Value | Type |
Pfam:BAT2_N
|
1 |
189 |
1.2e-70 |
PFAM |
low complexity region
|
243 |
276 |
N/A |
INTRINSIC |
low complexity region
|
343 |
357 |
N/A |
INTRINSIC |
low complexity region
|
396 |
413 |
N/A |
INTRINSIC |
low complexity region
|
422 |
434 |
N/A |
INTRINSIC |
coiled coil region
|
455 |
494 |
N/A |
INTRINSIC |
low complexity region
|
504 |
523 |
N/A |
INTRINSIC |
low complexity region
|
527 |
566 |
N/A |
INTRINSIC |
low complexity region
|
593 |
618 |
N/A |
INTRINSIC |
low complexity region
|
643 |
684 |
N/A |
INTRINSIC |
low complexity region
|
687 |
709 |
N/A |
INTRINSIC |
low complexity region
|
711 |
717 |
N/A |
INTRINSIC |
low complexity region
|
755 |
768 |
N/A |
INTRINSIC |
low complexity region
|
826 |
833 |
N/A |
INTRINSIC |
low complexity region
|
861 |
871 |
N/A |
INTRINSIC |
low complexity region
|
882 |
894 |
N/A |
INTRINSIC |
low complexity region
|
902 |
924 |
N/A |
INTRINSIC |
low complexity region
|
944 |
966 |
N/A |
INTRINSIC |
low complexity region
|
1032 |
1070 |
N/A |
INTRINSIC |
low complexity region
|
1129 |
1149 |
N/A |
INTRINSIC |
low complexity region
|
1162 |
1179 |
N/A |
INTRINSIC |
low complexity region
|
1190 |
1211 |
N/A |
INTRINSIC |
low complexity region
|
1234 |
1242 |
N/A |
INTRINSIC |
low complexity region
|
1285 |
1300 |
N/A |
INTRINSIC |
low complexity region
|
1346 |
1360 |
N/A |
INTRINSIC |
low complexity region
|
1394 |
1424 |
N/A |
INTRINSIC |
low complexity region
|
1430 |
1456 |
N/A |
INTRINSIC |
low complexity region
|
1488 |
1511 |
N/A |
INTRINSIC |
low complexity region
|
1553 |
1565 |
N/A |
INTRINSIC |
low complexity region
|
1693 |
1713 |
N/A |
INTRINSIC |
internal_repeat_1
|
1810 |
1860 |
5.56e-5 |
PROSPERO |
low complexity region
|
1879 |
1895 |
N/A |
INTRINSIC |
internal_repeat_1
|
1924 |
1983 |
5.56e-5 |
PROSPERO |
low complexity region
|
1995 |
2017 |
N/A |
INTRINSIC |
low complexity region
|
2019 |
2041 |
N/A |
INTRINSIC |
low complexity region
|
2070 |
2086 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166426
AA Change: G693A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000129324 Gene: ENSMUSG00000024392 AA Change: G693A
Domain | Start | End | E-Value | Type |
UBQ
|
17 |
87 |
5.62e-22 |
SMART |
low complexity region
|
96 |
112 |
N/A |
INTRINSIC |
low complexity region
|
171 |
188 |
N/A |
INTRINSIC |
low complexity region
|
202 |
221 |
N/A |
INTRINSIC |
low complexity region
|
228 |
246 |
N/A |
INTRINSIC |
Pfam:DUF3538
|
259 |
375 |
3.7e-53 |
PFAM |
low complexity region
|
409 |
420 |
N/A |
INTRINSIC |
low complexity region
|
539 |
607 |
N/A |
INTRINSIC |
low complexity region
|
614 |
630 |
N/A |
INTRINSIC |
low complexity region
|
655 |
703 |
N/A |
INTRINSIC |
low complexity region
|
707 |
729 |
N/A |
INTRINSIC |
low complexity region
|
747 |
762 |
N/A |
INTRINSIC |
low complexity region
|
780 |
790 |
N/A |
INTRINSIC |
low complexity region
|
1011 |
1024 |
N/A |
INTRINSIC |
low complexity region
|
1070 |
1080 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172571
AA Change: G688A
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000134175 Gene: ENSMUSG00000024392 AA Change: G688A
Domain | Start | End | E-Value | Type |
UBQ
|
17 |
87 |
5.62e-22 |
SMART |
low complexity region
|
96 |
112 |
N/A |
INTRINSIC |
low complexity region
|
171 |
188 |
N/A |
INTRINSIC |
low complexity region
|
202 |
221 |
N/A |
INTRINSIC |
low complexity region
|
228 |
252 |
N/A |
INTRINSIC |
Pfam:DUF3538
|
254 |
370 |
3.5e-53 |
PFAM |
low complexity region
|
404 |
415 |
N/A |
INTRINSIC |
low complexity region
|
534 |
602 |
N/A |
INTRINSIC |
low complexity region
|
609 |
625 |
N/A |
INTRINSIC |
low complexity region
|
650 |
698 |
N/A |
INTRINSIC |
low complexity region
|
702 |
724 |
N/A |
INTRINSIC |
low complexity region
|
742 |
757 |
N/A |
INTRINSIC |
low complexity region
|
775 |
785 |
N/A |
INTRINSIC |
low complexity region
|
1006 |
1019 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172882
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172925
|
Predicted Effect |
unknown
Transcript: ENSMUST00000173550
AA Change: G728A
|
SMART Domains |
Protein: ENSMUSP00000134628 Gene: ENSMUSG00000024392 AA Change: G728A
Domain | Start | End | E-Value | Type |
UBQ
|
17 |
87 |
5.62e-22 |
SMART |
low complexity region
|
96 |
112 |
N/A |
INTRINSIC |
low complexity region
|
171 |
188 |
N/A |
INTRINSIC |
low complexity region
|
202 |
221 |
N/A |
INTRINSIC |
low complexity region
|
228 |
246 |
N/A |
INTRINSIC |
Pfam:DUF3538
|
259 |
375 |
3.7e-53 |
PFAM |
low complexity region
|
409 |
420 |
N/A |
INTRINSIC |
low complexity region
|
496 |
511 |
N/A |
INTRINSIC |
low complexity region
|
574 |
642 |
N/A |
INTRINSIC |
low complexity region
|
649 |
665 |
N/A |
INTRINSIC |
low complexity region
|
690 |
738 |
N/A |
INTRINSIC |
low complexity region
|
742 |
764 |
N/A |
INTRINSIC |
low complexity region
|
782 |
797 |
N/A |
INTRINSIC |
low complexity region
|
815 |
825 |
N/A |
INTRINSIC |
low complexity region
|
1046 |
1059 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000174281
AA Change: G746A
|
SMART Domains |
Protein: ENSMUSP00000134425 Gene: ENSMUSG00000024392 AA Change: G746A
Domain | Start | End | E-Value | Type |
UBQ
|
17 |
87 |
5.62e-22 |
SMART |
low complexity region
|
96 |
112 |
N/A |
INTRINSIC |
low complexity region
|
189 |
206 |
N/A |
INTRINSIC |
low complexity region
|
220 |
239 |
N/A |
INTRINSIC |
low complexity region
|
246 |
264 |
N/A |
INTRINSIC |
Pfam:DUF3538
|
277 |
393 |
3.6e-53 |
PFAM |
low complexity region
|
427 |
438 |
N/A |
INTRINSIC |
low complexity region
|
514 |
529 |
N/A |
INTRINSIC |
low complexity region
|
592 |
660 |
N/A |
INTRINSIC |
low complexity region
|
667 |
683 |
N/A |
INTRINSIC |
low complexity region
|
708 |
756 |
N/A |
INTRINSIC |
low complexity region
|
760 |
782 |
N/A |
INTRINSIC |
low complexity region
|
800 |
815 |
N/A |
INTRINSIC |
low complexity region
|
833 |
843 |
N/A |
INTRINSIC |
low complexity region
|
1064 |
1077 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174797
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173558
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173351
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174613
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173952
|
SMART Domains |
Protein: ENSMUSP00000134717 Gene: ENSMUSG00000024392
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
low complexity region
|
20 |
29 |
N/A |
INTRINSIC |
low complexity region
|
30 |
45 |
N/A |
INTRINSIC |
UBQ
|
58 |
128 |
5.62e-22 |
SMART |
low complexity region
|
137 |
153 |
N/A |
INTRINSIC |
low complexity region
|
212 |
229 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173535
|
SMART Domains |
Protein: ENSMUSP00000133822 Gene: ENSMUSG00000024392
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
low complexity region
|
20 |
29 |
N/A |
INTRINSIC |
low complexity region
|
30 |
45 |
N/A |
INTRINSIC |
UBQ
|
58 |
128 |
5.62e-22 |
SMART |
low complexity region
|
137 |
153 |
N/A |
INTRINSIC |
low complexity region
|
230 |
247 |
N/A |
INTRINSIC |
low complexity region
|
261 |
280 |
N/A |
INTRINSIC |
low complexity region
|
287 |
305 |
N/A |
INTRINSIC |
Pfam:DUF3538
|
318 |
434 |
1.3e-53 |
PFAM |
low complexity region
|
468 |
479 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173491
|
SMART Domains |
Protein: ENSMUSP00000134279 Gene: ENSMUSG00000024392
Domain | Start | End | E-Value | Type |
UBQ
|
17 |
87 |
5.62e-22 |
SMART |
low complexity region
|
96 |
112 |
N/A |
INTRINSIC |
low complexity region
|
189 |
206 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172993
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174805
|
SMART Domains |
Protein: ENSMUSP00000133550 Gene: ENSMUSG00000024393
Domain | Start | End | E-Value | Type |
Pfam:BAT2_N
|
1 |
137 |
6.6e-53 |
PFAM |
low complexity region
|
188 |
221 |
N/A |
INTRINSIC |
low complexity region
|
288 |
302 |
N/A |
INTRINSIC |
low complexity region
|
341 |
358 |
N/A |
INTRINSIC |
low complexity region
|
367 |
379 |
N/A |
INTRINSIC |
coiled coil region
|
400 |
439 |
N/A |
INTRINSIC |
low complexity region
|
449 |
468 |
N/A |
INTRINSIC |
low complexity region
|
472 |
511 |
N/A |
INTRINSIC |
low complexity region
|
538 |
563 |
N/A |
INTRINSIC |
low complexity region
|
588 |
629 |
N/A |
INTRINSIC |
low complexity region
|
632 |
654 |
N/A |
INTRINSIC |
low complexity region
|
656 |
662 |
N/A |
INTRINSIC |
low complexity region
|
700 |
713 |
N/A |
INTRINSIC |
low complexity region
|
771 |
778 |
N/A |
INTRINSIC |
low complexity region
|
806 |
816 |
N/A |
INTRINSIC |
low complexity region
|
827 |
839 |
N/A |
INTRINSIC |
low complexity region
|
847 |
869 |
N/A |
INTRINSIC |
low complexity region
|
889 |
911 |
N/A |
INTRINSIC |
low complexity region
|
977 |
1015 |
N/A |
INTRINSIC |
low complexity region
|
1074 |
1094 |
N/A |
INTRINSIC |
low complexity region
|
1107 |
1124 |
N/A |
INTRINSIC |
low complexity region
|
1135 |
1156 |
N/A |
INTRINSIC |
low complexity region
|
1179 |
1187 |
N/A |
INTRINSIC |
low complexity region
|
1230 |
1245 |
N/A |
INTRINSIC |
low complexity region
|
1291 |
1305 |
N/A |
INTRINSIC |
low complexity region
|
1339 |
1369 |
N/A |
INTRINSIC |
low complexity region
|
1375 |
1401 |
N/A |
INTRINSIC |
low complexity region
|
1433 |
1456 |
N/A |
INTRINSIC |
low complexity region
|
1498 |
1510 |
N/A |
INTRINSIC |
low complexity region
|
1638 |
1658 |
N/A |
INTRINSIC |
internal_repeat_1
|
1755 |
1804 |
3.99e-5 |
PROSPERO |
low complexity region
|
1823 |
1839 |
N/A |
INTRINSIC |
internal_repeat_1
|
1868 |
1927 |
3.99e-5 |
PROSPERO |
low complexity region
|
1939 |
1961 |
N/A |
INTRINSIC |
low complexity region
|
1963 |
1985 |
N/A |
INTRINSIC |
low complexity region
|
2014 |
2030 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 93.8%
- 20x: 81.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was first characterized as part of a cluster of genes located within the human major histocompatibility complex class III region. This gene encodes a nuclear protein that is cleaved by caspase 3 and is implicated in the control of apoptosis. In addition, the protein forms a complex with E1A binding protein p300 and is required for the acetylation of p53 in response to DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Targeted disruption of this gene results in either embryonic lethality following abnormal brain development or neonatal death associated with severe developmental defects in the lung and kidney. These developmental defects are associated with widespread aberrant apoptosis and proliferation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933409G03Rik |
A |
G |
2: 68,446,591 (GRCm39) |
|
probably benign |
Het |
Aass |
G |
A |
6: 23,109,519 (GRCm39) |
P317L |
probably damaging |
Het |
Abca12 |
T |
A |
1: 71,298,972 (GRCm39) |
N2313I |
possibly damaging |
Het |
Adamts12 |
T |
C |
15: 11,071,594 (GRCm39) |
I46T |
probably benign |
Het |
Adipoq |
T |
G |
16: 22,965,393 (GRCm39) |
|
probably null |
Het |
Amy1 |
A |
T |
3: 113,363,070 (GRCm39) |
D92E |
probably benign |
Het |
Asb15 |
G |
A |
6: 24,564,392 (GRCm39) |
R282Q |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,887,282 (GRCm39) |
I870T |
possibly damaging |
Het |
Cand2 |
A |
G |
6: 115,766,463 (GRCm39) |
K356R |
probably damaging |
Het |
Cbfa2t3 |
T |
C |
8: 123,360,076 (GRCm39) |
Q525R |
possibly damaging |
Het |
Cd4 |
T |
C |
6: 124,844,769 (GRCm39) |
R339G |
probably damaging |
Het |
Cdh8 |
A |
G |
8: 99,917,066 (GRCm39) |
S350P |
probably damaging |
Het |
Cep295 |
A |
T |
9: 15,249,509 (GRCm39) |
S469T |
probably damaging |
Het |
Ckap2l |
A |
T |
2: 129,127,342 (GRCm39) |
S279T |
probably benign |
Het |
Clnk |
T |
A |
5: 38,927,282 (GRCm39) |
N66Y |
probably damaging |
Het |
Col27a1 |
A |
T |
4: 63,142,503 (GRCm39) |
T64S |
probably benign |
Het |
Crtc1 |
T |
C |
8: 70,838,871 (GRCm39) |
D599G |
probably damaging |
Het |
Cyp2c23 |
A |
C |
19: 44,000,795 (GRCm39) |
I363S |
probably damaging |
Het |
Dnah10 |
A |
T |
5: 124,911,139 (GRCm39) |
I4519F |
possibly damaging |
Het |
Dner |
T |
A |
1: 84,348,553 (GRCm39) |
I716F |
probably damaging |
Het |
Dsel |
T |
G |
1: 111,789,333 (GRCm39) |
T401P |
possibly damaging |
Het |
Egfr |
A |
G |
11: 16,861,746 (GRCm39) |
D1175G |
probably benign |
Het |
Ephb3 |
A |
T |
16: 21,036,804 (GRCm39) |
N343I |
probably damaging |
Het |
Fbxw10 |
T |
A |
11: 62,768,070 (GRCm39) |
F974I |
probably benign |
Het |
Gfi1b |
T |
C |
2: 28,503,786 (GRCm39) |
Y138C |
probably damaging |
Het |
Gm11168 |
T |
A |
9: 3,005,175 (GRCm39) |
L6H |
probably benign |
Het |
Grb10 |
A |
C |
11: 11,895,583 (GRCm39) |
V247G |
probably damaging |
Het |
Gstp2 |
A |
T |
19: 4,090,514 (GRCm39) |
|
probably null |
Het |
Hars2 |
C |
T |
18: 36,922,257 (GRCm39) |
Q291* |
probably null |
Het |
Hyal4 |
G |
T |
6: 24,756,220 (GRCm39) |
W146L |
probably damaging |
Het |
Il22ra1 |
C |
T |
4: 135,461,556 (GRCm39) |
T107I |
possibly damaging |
Het |
Itga8 |
A |
G |
2: 12,209,540 (GRCm39) |
|
probably null |
Het |
Klhl25 |
T |
C |
7: 75,515,450 (GRCm39) |
S119P |
probably damaging |
Het |
Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
Lrrc8c |
T |
C |
5: 105,754,636 (GRCm39) |
V137A |
probably benign |
Het |
Macrod2 |
A |
T |
2: 142,018,545 (GRCm39) |
E226V |
probably damaging |
Het |
Mcemp1 |
A |
T |
8: 3,718,201 (GRCm39) |
Q165L |
probably benign |
Het |
Mcpt9 |
T |
A |
14: 56,265,453 (GRCm39) |
K82M |
probably benign |
Het |
Mpzl3 |
A |
G |
9: 44,973,458 (GRCm39) |
T66A |
probably damaging |
Het |
Msh6 |
G |
A |
17: 88,287,788 (GRCm39) |
V143I |
possibly damaging |
Het |
Mug1 |
G |
A |
6: 121,815,684 (GRCm39) |
|
probably null |
Het |
Ncr1 |
G |
T |
7: 4,343,972 (GRCm39) |
C153F |
probably damaging |
Het |
Nf1 |
T |
A |
11: 79,359,595 (GRCm39) |
M1411K |
possibly damaging |
Het |
Nf1 |
T |
A |
11: 79,469,098 (GRCm39) |
V786D |
probably damaging |
Het |
Nisch |
T |
C |
14: 30,925,351 (GRCm39) |
|
probably benign |
Het |
Nwd2 |
T |
A |
5: 63,963,694 (GRCm39) |
Y1093N |
probably benign |
Het |
Oas3 |
G |
A |
5: 120,894,210 (GRCm39) |
R39C |
probably damaging |
Het |
Or1e32 |
A |
T |
11: 73,705,731 (GRCm39) |
M59K |
probably damaging |
Het |
Or7a36 |
C |
T |
10: 78,820,023 (GRCm39) |
T133I |
possibly damaging |
Het |
Oxa1l |
T |
C |
14: 54,600,944 (GRCm39) |
I139T |
probably damaging |
Het |
P3h3 |
T |
A |
6: 124,822,235 (GRCm39) |
N583Y |
probably damaging |
Het |
Pcdh18 |
A |
T |
3: 49,711,147 (GRCm39) |
|
probably null |
Het |
Pcnp |
C |
T |
16: 55,844,896 (GRCm39) |
|
probably benign |
Het |
Pdzd8 |
G |
T |
19: 59,289,563 (GRCm39) |
D612E |
probably benign |
Het |
Pi4kb |
T |
C |
3: 94,906,261 (GRCm39) |
S8P |
probably damaging |
Het |
Pikfyve |
T |
G |
1: 65,295,231 (GRCm39) |
V1454G |
possibly damaging |
Het |
Podn |
T |
C |
4: 107,878,695 (GRCm39) |
N246D |
probably damaging |
Het |
Prg4 |
T |
C |
1: 150,330,243 (GRCm39) |
|
probably benign |
Het |
R3hdm2 |
T |
C |
10: 127,320,390 (GRCm39) |
Y523H |
probably damaging |
Het |
Rpf1 |
T |
A |
3: 146,213,904 (GRCm39) |
E231V |
possibly damaging |
Het |
Slc16a10 |
C |
T |
10: 39,932,611 (GRCm39) |
E317K |
probably benign |
Het |
Slc34a1 |
A |
T |
13: 55,560,078 (GRCm39) |
I435F |
probably damaging |
Het |
Snx19 |
A |
G |
9: 30,344,683 (GRCm39) |
D629G |
probably damaging |
Het |
Tomm70a |
T |
C |
16: 56,966,463 (GRCm39) |
I472T |
probably benign |
Het |
Trp53 |
A |
G |
11: 69,479,506 (GRCm39) |
Y202C |
probably damaging |
Het |
Ttc14 |
T |
A |
3: 33,863,403 (GRCm39) |
|
probably benign |
Het |
Ugt1a1 |
C |
T |
1: 88,140,277 (GRCm39) |
A185V |
possibly damaging |
Het |
Usp28 |
A |
G |
9: 48,939,578 (GRCm39) |
D655G |
probably damaging |
Het |
Vmn1r215 |
C |
T |
13: 23,260,254 (GRCm39) |
T98I |
probably damaging |
Het |
Vmn2r121 |
G |
T |
X: 123,041,879 (GRCm39) |
T426N |
probably benign |
Het |
Vmn2r99 |
A |
G |
17: 19,614,835 (GRCm39) |
N852D |
probably benign |
Het |
Xrn2 |
T |
A |
2: 146,889,580 (GRCm39) |
D654E |
probably damaging |
Het |
Yju2 |
C |
A |
17: 56,271,653 (GRCm39) |
D191E |
probably damaging |
Het |
Zfp335 |
C |
G |
2: 164,738,065 (GRCm39) |
A849P |
possibly damaging |
Het |
Zfp954 |
C |
T |
7: 7,118,390 (GRCm39) |
V385M |
probably damaging |
Het |
Zmynd15 |
A |
G |
11: 70,355,052 (GRCm39) |
T350A |
probably damaging |
Het |
|
Other mutations in Bag6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00333:Bag6
|
APN |
17 |
35,363,627 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00489:Bag6
|
APN |
17 |
35,363,627 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01613:Bag6
|
APN |
17 |
35,361,992 (GRCm39) |
unclassified |
probably benign |
|
IGL01735:Bag6
|
APN |
17 |
35,364,737 (GRCm39) |
unclassified |
probably benign |
|
IGL02146:Bag6
|
APN |
17 |
35,355,191 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03092:Bag6
|
APN |
17 |
35,364,603 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03377:Bag6
|
APN |
17 |
35,363,958 (GRCm39) |
missense |
probably damaging |
1.00 |
Hobbit
|
UTSW |
17 |
35,364,898 (GRCm39) |
critical splice donor site |
probably null |
|
Hunter
|
UTSW |
17 |
35,364,214 (GRCm39) |
splice site |
probably null |
|
R0449:Bag6
|
UTSW |
17 |
35,360,442 (GRCm39) |
missense |
probably damaging |
1.00 |
R1228:Bag6
|
UTSW |
17 |
35,364,309 (GRCm39) |
missense |
probably damaging |
0.99 |
R1450:Bag6
|
UTSW |
17 |
35,360,934 (GRCm39) |
missense |
probably benign |
0.01 |
R1686:Bag6
|
UTSW |
17 |
35,363,928 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1869:Bag6
|
UTSW |
17 |
35,361,802 (GRCm39) |
missense |
probably benign |
0.05 |
R2034:Bag6
|
UTSW |
17 |
35,363,668 (GRCm39) |
missense |
probably damaging |
0.99 |
R2205:Bag6
|
UTSW |
17 |
35,363,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R2428:Bag6
|
UTSW |
17 |
35,366,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R2987:Bag6
|
UTSW |
17 |
35,364,661 (GRCm39) |
nonsense |
probably null |
|
R4691:Bag6
|
UTSW |
17 |
35,358,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R4705:Bag6
|
UTSW |
17 |
35,361,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R4905:Bag6
|
UTSW |
17 |
35,364,162 (GRCm39) |
missense |
probably damaging |
1.00 |
R5001:Bag6
|
UTSW |
17 |
35,364,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R5168:Bag6
|
UTSW |
17 |
35,363,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R5808:Bag6
|
UTSW |
17 |
35,365,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R6118:Bag6
|
UTSW |
17 |
35,362,600 (GRCm39) |
missense |
probably damaging |
0.99 |
R6212:Bag6
|
UTSW |
17 |
35,359,278 (GRCm39) |
missense |
probably benign |
0.17 |
R6279:Bag6
|
UTSW |
17 |
35,357,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R6300:Bag6
|
UTSW |
17 |
35,357,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R6564:Bag6
|
UTSW |
17 |
35,359,347 (GRCm39) |
missense |
probably damaging |
0.98 |
R6783:Bag6
|
UTSW |
17 |
35,363,211 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6927:Bag6
|
UTSW |
17 |
35,364,898 (GRCm39) |
critical splice donor site |
probably null |
|
R7226:Bag6
|
UTSW |
17 |
35,361,921 (GRCm39) |
missense |
unknown |
|
R7490:Bag6
|
UTSW |
17 |
35,359,818 (GRCm39) |
missense |
unknown |
|
R7499:Bag6
|
UTSW |
17 |
35,363,368 (GRCm39) |
missense |
probably benign |
0.29 |
R7688:Bag6
|
UTSW |
17 |
35,365,868 (GRCm39) |
missense |
probably damaging |
0.99 |
R8016:Bag6
|
UTSW |
17 |
35,357,733 (GRCm39) |
missense |
unknown |
|
R8066:Bag6
|
UTSW |
17 |
35,361,283 (GRCm39) |
missense |
unknown |
|
R8189:Bag6
|
UTSW |
17 |
35,364,214 (GRCm39) |
splice site |
probably null |
|
R8424:Bag6
|
UTSW |
17 |
35,365,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R8542:Bag6
|
UTSW |
17 |
35,363,334 (GRCm39) |
missense |
probably damaging |
1.00 |
R8838:Bag6
|
UTSW |
17 |
35,363,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R8850:Bag6
|
UTSW |
17 |
35,361,041 (GRCm39) |
missense |
unknown |
|
R9022:Bag6
|
UTSW |
17 |
35,363,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R9028:Bag6
|
UTSW |
17 |
35,363,130 (GRCm39) |
missense |
probably benign |
0.01 |
R9128:Bag6
|
UTSW |
17 |
35,363,688 (GRCm39) |
missense |
probably damaging |
0.97 |
R9135:Bag6
|
UTSW |
17 |
35,362,437 (GRCm39) |
missense |
unknown |
|
R9186:Bag6
|
UTSW |
17 |
35,363,667 (GRCm39) |
missense |
probably damaging |
1.00 |
X0025:Bag6
|
UTSW |
17 |
35,365,053 (GRCm39) |
nonsense |
probably null |
|
Z1176:Bag6
|
UTSW |
17 |
35,358,286 (GRCm39) |
critical splice donor site |
probably null |
|
Z1177:Bag6
|
UTSW |
17 |
35,361,900 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCCTAAGACGCTGAGATCAGAGCTG -3'
(R):5'- ACCCACATCTTGCTTACCAAGGGC -3'
Sequencing Primer
(F):5'- agaatgcccatacacaataaatacag -3'
(R):5'- ATGAAGGCAGCGATACTCTC -3'
|
Posted On |
2013-07-24 |